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Aliases for DEFB106A Gene

Aliases for DEFB106A Gene

  • Defensin Beta 106A 2 3 5
  • Defensin, Beta 106A 2 3
  • Defensin, Beta 106 2 4
  • Beta-Defensin 6 3 4
  • DEFB106 3 4
  • DEFB-6 3 4
  • BD-6 3 4
  • DEFB106A DEFB106B 4
  • Defensin, Beta 6 3
  • DEFB6 4
  • BD6 4

External Ids for DEFB106A Gene

Previous HGNC Symbols for DEFB106A Gene

  • DEFB106

Previous GeneCards Identifiers for DEFB106A Gene

  • GC08M007328
  • GC08P007721
  • GC08P007682

Summaries for DEFB106A Gene

Entrez Gene Summary for DEFB106A Gene

  • Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFB106A Gene

DEFB106A (Defensin Beta 106A) is a Protein Coding gene. Diseases associated with DEFB106A include papilloma and intestinal benign neoplasm. Among its related pathways are Immune System and Defensins. An important paralog of this gene is DEFB106B.

UniProtKB/Swiss-Prot for DEFB106A Gene

  • Has antibacterial activity.

Gene Wiki entry for DEFB106A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB106A Gene

Genomics for DEFB106A Gene

Regulatory Elements for DEFB106A Gene

Genomic Location for DEFB106A Gene

Chromosome:
8
Start:
7,825,172 bp from pter
End:
7,829,053 bp from pter
Size:
3,882 bases
Orientation:
Plus strand

Genomic View for DEFB106A Gene

Genes around DEFB106A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB106A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB106A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB106A Gene

Proteins for DEFB106A Gene

  • Protein details for DEFB106A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N104-D106A_HUMAN
    Recommended name:
    Beta-defensin 106
    Protein Accession:
    Q8N104
    Secondary Accessions:
    • Q2NKR0
    • Q496I8

    Protein attributes for DEFB106A Gene

    Size:
    65 amino acids
    Molecular mass:
    7369 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DEFB106A Gene

neXtProt entry for DEFB106A Gene

Proteomics data for DEFB106A Gene at MOPED

Post-translational modifications for DEFB106A Gene

No Post-translational modifications

Other Protein References for DEFB106A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB106A Gene

Domains & Families for DEFB106A Gene

Gene Families for DEFB106A Gene

Protein Domains for DEFB106A Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8N104

UniProtKB/Swiss-Prot:

D106A_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB106A: view

No data available for Suggested Antigen Peptide Sequences for DEFB106A Gene

Function for DEFB106A Gene

Molecular function for DEFB106A Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes for DEFB106A Gene

genes like me logo Genes that share phenotypes with DEFB106A: view

Animal Model Products

miRNA for DEFB106A Gene

miRTarBase miRNAs that target DEFB106A

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB106A Gene

Localization for DEFB106A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB106A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB106A Gene COMPARTMENTS Subcellular localization image for DEFB106A gene
Compartment Confidence
extracellular 5

No data available for Gene Ontology (GO) - Cellular Components for DEFB106A Gene

Pathways & Interactions for DEFB106A Gene

SuperPathways for DEFB106A Gene

Superpath Contained pathways
1 Immune System
2 Defensins
.82
genes like me logo Genes that share pathways with DEFB106A: view

Pathways by source for DEFB106A Gene

4 Reactome pathways for DEFB106A Gene

Interacting Proteins for DEFB106A Gene

Gene Ontology (GO) - Biological Process for DEFB106A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB106A: view

No data available for SIGNOR curated interactions for DEFB106A Gene

Drugs & Compounds for DEFB106A Gene

No Compound Related Data Available

Transcripts for DEFB106A Gene

mRNA/cDNA for DEFB106A Gene

(1) REFSEQ mRNAs :
(9) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB106A Gene

No ASD Table

Relevant External Links for DEFB106A Gene

GeneLoc Exon Structure for
DEFB106A
ECgene alternative splicing isoforms for
DEFB106A

Expression for DEFB106A Gene

mRNA expression in normal human tissues for DEFB106A Gene

mRNA Expression by UniProt/SwissProt for DEFB106A Gene

Q8N104-D106A_HUMAN
Tissue specificity: Expressed specifically in epididymis and lung.
genes like me logo Genes that share expression patterns with DEFB106A: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for DEFB106A Gene

Orthologs for DEFB106A Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for DEFB106A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB106A 36
  • 100 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Defb15 36
  • 57 (a)
ManyToMany
Species with no ortholog for DEFB106A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DEFB106A Gene

ENSEMBL:
Gene Tree for DEFB106A (if available)
TreeFam:
Gene Tree for DEFB106A (if available)

Paralogs for DEFB106A Gene

Paralogs for DEFB106A Gene

(7) SIMAP similar genes for DEFB106A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB106A: view

Variants for DEFB106A Gene

Sequence variations from dbSNP and Humsavar for DEFB106A Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs2680551 -- 7,827,061(-) ACTAT(A/G)CTATA intron-variant
rs2737589 -- 7,826,691(-) ACTCT(A/C)TCTCA intron-variant
rs28699687 -- 7,827,442(+) ACTAG(C/T)ATAAT intron-variant
rs28434651 -- 7,827,399(+) ATAGT(A/G)TATAT intron-variant
rs28627194 -- 7,827,409(-) TTATA(A/C)TAGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB106A Gene

Variant ID Type Subtype PubMed ID
nsv428194 CNV Gain+Loss 18775914
dgv2191e1 CNV Complex 17122850
nsv515968 CNV Gain+Loss 19592680
nsv821656 CNV Gain 15273396
dgv2192e1 CNV Complex 17122850
esv2736558 CNV Deletion 23290073
nsv510977 CNV Complex 20534489
dgv2193e1 CNV Complex 17122850
dgv7659n71 CNV Gain 21882294
esv21583 CNV Gain+Loss 19812545
nsv890078 CNV Gain 21882294
esv33606 CNV Gain+Loss 17666407
dgv7661n71 CNV Gain 21882294
dgv7662n71 CNV Gain 21882294
nsv8281 CNV Gain+Loss 18304495
dgv7663n71 CNV Loss 21882294
dgv7664n71 CNV Loss 21882294
dgv2194e1 CNV Complex 17122850
nsv471650 CNV Gain+Loss 15918152
dgv2195e1 CNV Complex 17122850
dgv7666n71 CNV Gain 21882294
dgv7667n71 CNV Gain+Loss 21882294
dgv7668n71 CNV Gain 21882294
dgv7669n71 CNV Gain 21882294
dgv7670n71 CNV Loss 21882294
dgv7672n71 CNV Gain+Loss 21882294
dgv7673n71 CNV Gain+Loss 21882294
esv996398 CNV Gain 20482838
nsv890110 CNV Gain 21882294
esv2752265 CNV Gain 17911159
nsv824519 CNV Loss 20364138
nsv824521 CNV Gain 20364138
nsv515100 CNV Complex 21397061
dgv31n14 CNV Loss 18776910
dgv7675n71 CNV Loss 21882294
nsv890153 CNV Loss 21882294
nsv442397 CNV CNV 18776908
nsv469521 CNV Complex 16826518
dgv7677n71 CNV Gain+Loss 21882294
dgv7678n71 CNV Gain 21882294
dgv7679n71 CNV Gain 21882294
dgv25n31 CNV Duplication 19718026
dgv7680n71 CNV Loss 21882294
dgv7681n71 CNV Gain 21882294
esv2752266 CNV Loss 17911159
nsv890230 CNV Gain+Loss 21882294
nsv890228 CNV Gain 21882294
nsv508496 CNV Loss 20534489
dgv7682n71 CNV Gain 21882294
esv25631 CNV Gain+Loss 19812545
nsv890256 CNV Gain+Loss 21882294
dgv7683n71 CNV Gain+Loss 21882294
dgv7684n71 CNV Loss 21882294
dgv7685n71 CNV Gain 21882294
nsv890270 CNV Loss 21882294
dgv7686n71 CNV Gain 21882294
dgv7687n71 CNV Gain 21882294
esv992071 CNV Gain 20482838
dgv7688n71 CNV Gain 21882294
dgv7689n71 CNV Gain 21882294
nsv433398 CNV Gain 18776910
dgv7690n71 CNV Gain+Loss 21882294
dgv7691n71 CNV Gain 21882294
dgv26n31 CNV Duplication 19718026
dgv1170n67 CNV Loss 20364138
nsv824524 CNV Gain+Loss 20364138
dgv7692n71 CNV Gain 21882294
dgv7693n71 CNV Gain+Loss 21882294

Variation tolerance for DEFB106A Gene

Residual Variation Intolerance Score: 64.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.03; 0.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB106A Gene

HapMap Linkage Disequilibrium report
DEFB106A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB106A Gene

Disorders for DEFB106A Gene

MalaCards: The human disease database

(2) MalaCards diseases for DEFB106A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
papilloma
  • papillomatosis
intestinal benign neoplasm
  • intestinal tumors
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DEFB106A

Genetic Association Database (GAD)
DEFB106A
Human Genome Epidemiology (HuGE) Navigator
DEFB106A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB106A
genes like me logo Genes that share disorders with DEFB106A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB106A Gene

Publications for DEFB106A Gene

  1. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte B.C. … McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4 67
  2. Soluble fusion expression, characterization and localization of human I^-defensin 6. (PMID: 24189797) Xin A. … Zhang Y. (Mol Med Rep 2014) 3
  3. Unique properties of human I^-defensin 6 (hBD6) and glycosaminoglycan complex: sandwich-like dimerization and competition with the chemokine receptor 2 (CCR2) binding site. (PMID: 24970887) De Paula V.S. … Valente A.P. (J. Biol. Chem. 2014) 3
  4. Copy number variation of defensin genes and HIV infection in Brazilian children. (PMID: 19194307) Milanese M. … Crovella S. (J. Acquir. Immune Defic. Syndr. 2009) 3
  5. Production of bioactive human beta-defensin 5 and 6 in Escherichia coli by soluble fusion expression. (PMID: 18595735) Huang L. … Leong S.S. (Protein Expr. Purif. 2008) 23

Products for DEFB106A Gene

Sources for DEFB106A Gene

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